Article

A Case Report: When Family History Holds the Clue: A Prolonged Diagnostic Journey to Spinal Muscular Atrophy

2026-08-19

Abstract excerpt

<title>Abstract</title> <p>Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disorder caused by biallelic abnormalities of the survival motor neuron 1 (SMN1) gene, with phenotype modified in part by SMN2 copy number. The estimated incidence is approximately 1 in 10,000 live births, although estimates vary between populations. SMA type 3 presents after independent walking has been achieved and m...

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Literature Corpus work: c0c6369a-35c4-5f99-900c-d50296df81b4
DOI: 10.21203/rs.3.rs-10730430/v1

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